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rs587783961

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587783961(-;-)
Make rs587783961(-;A)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37020622
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783961
ebirs587783961
HLIrs587783961
Exacrs587783961
Varsomers587783961
Maprs587783961
PheGenIrs587783961
hapmaprs587783961
1000 genomesrs587783961
hgdprs587783961
ensemblrs587783961
gopubmedrs587783961
geneviewrs587783961
scholarrs587783961
googlers587783961
pharmgkbrs587783961
gwascentralrs587783961
openSNPrs587783961
23andMers587783961
23andMe allrs587783961
SNP Nexus

SNPshotrs587783961
SNPdbers587783961
MSV3drs587783961
GWAS Ctlgrs587783961
Max Magnitude0
ClinVar
Risk rs587783961(;)
Alt rs587783961(;)
Reference rs587783961(A;A)
Significance Pathogenic
Disease Cornelia de Lange syndrome 1
Variation info
Gene NIPBL
CLNDBN Cornelia de Lange syndrome 1
Reversed 0
HGVS NC_000005.9:g.37020724delA
CLNSRC
CLNACC RCV000146628.1,